chrX:122441479:G>A Detail (hg19) (GRIA3)

Information

Genome

Assembly Position
hg19 chrX:122,441,479-122,441,479
hg38 chrX:123,307,628-123,307,628 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007325.4:c.509-18398G>A
NM_000828.4:c.509-18398G>A
Ensemble ENST00000620443.2:c.509-18398G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.574
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 305915 OMIM
HGNC 4573 HGNC
Ensembl ENSG00000125675 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66882349 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 anorexia nervosa Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
0.001 obsessive-compulsive disorder Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
<0.001 osteochondritis dissecans Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empiri... BeFree 23337130 Detail
Annotation

Annotations

DescrptionSourceLinks
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail
Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-va... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4825476 dbSNP
Genome
hg19
Position
chrX:122,441,479-122,441,479
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4825476
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5737
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7367
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12842
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